Maladie de Gaucher - URPS-ML Corse

PNDS Maladie de GaucherANNEXE 2. RÉFÉRENCESRéférences principales :Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, HillSC, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl JMed 1991;324(21):1464-70.Belmatoug N, Guffon N, Stirnemann J, Caillaud C, Vanier MT, Sedel F, et al.Pregnancy in Gaucher disease in the era of enzyme replacement therapy.7th European Working Group on GAUCHER Disease 2006. [consulté le 23-10-2006].Beutler E, Grabowski GA. Gaucher Disease. In: Scriver CR, Beaudet AL,Sly WS, Valle D, ed. The metabolic and molecular basis of inheriteddisease. New York: McGraw Hill; 2001. p. 3635-68.Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de MeulemeesterTM, et al. The human chitotriosidase gene. Nature of inherited enzymedeficiency. J Biol Chem 1998;273(40):25680-5.Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. ii.evidence of an enzymatic deficiency in gaucher's disease. Biochem BiophysRes Commun 1965;18:221-5.Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, etal. Enzyme replacement therapy and monitoring for children with type 1Gaucher disease: consensus recommendations. J Pediatr 2004;144(1):112-20.Ciana G, Addobbati R, Tamaro G, Leopaldi A, Nevyjel M, Ronfani L, et al.Gaucher disease and bone: laboratory and skeletal mineral densityvariations during a long period of enzyme replacement therapy. J InheritMetab Dis 2005;28(5):723-32.Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, et al. The roleof the iminosugar N-butyldeoxynojirimycin (miglustat) in the management oftype I (non-neuronopathic) Gaucher disease: a position statement. J InheritMetab Dis 2003;26(6):513-26.HAS / Service des affections de longue durée et accords conventionnels /Janvier 2007 41